SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2147537859 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147537887 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147537918 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147538127 AR Health Risk Pathogenic See cases, See cases
RS2147538169 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147538369 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147538462 PCDH19 Health Risk Pathogenic —
RS2147538465 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147538605 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147538759 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147538796 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147538807 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147538910 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147538918 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147538939 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539018 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539047 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539327 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539361 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539378 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539395 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539571 PCDH19 Health Risk Likely pathogenic Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure
RS2147539591 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539848 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147539926 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540049 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147540086 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540245 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540246 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147540261 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540378 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147540431 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540480 PCDH19 Health Risk Likely pathogenic —
RS2147540489 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147540518 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147540522 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540656 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2147540748 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147540751 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540836 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147540838 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147540901 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2147540985 PCDH19 Health Risk Likely pathogenic —
RS2147541121 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147541270 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147541358 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147541373 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147541401 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147541704 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147541733 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147541749 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147542056 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147542217 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147542235 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS2147542264 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147542293 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147542320 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147542709 PCDH19 Health Risk Likely pathogenic PCDH19-related epilespy, PCDH19-related epilespy
RS2147542719 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147542837 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147542870 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147543046 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147545316 HNF1B Health Risk Conflicting classifications of pathogenicity —
RS2147545812 HNF1B Health Risk Pathogenic —
RS2147551714 PLS3 Health Risk Conflicting classifications of pathogenicity Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS2147551760 PLS3 Health Risk Likely pathogenic Congenital diaphragmatic hernia, Hernia
RS2147551767 PLS3 Health Risk Pathogenic —
RS2147552254 TEX11 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2147552486 HNF1B Health Risk Pathogenic —
RS2147553451 HNF1B Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Nonpapillary renal cell carcinoma
RS2147553490 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2147557663 DMD Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2147558029 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147558436 PLS3 Health Risk Pathogenic —
RS2147560185 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2147562704 IGBP1 Health Risk Pathogenic Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome, Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
RS2147573600 AMELX Health Risk Likely pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS2147575564 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2147577444 PLS3 Health Risk Pathogenic —
RS2147581521 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147582103 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS2147585338 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS2147585558 PLS3 Health Risk Pathogenic/Likely pathogenic —
RS2147585672 PLS3 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2147585800 PLS3 Health Risk Pathogenic —
RS2147586886 PLS3 Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2147590595 PLS3 Health Risk Pathogenic Postmenopausal osteoporosis, Nonpapillary renal cell carcinoma
RS2147590837 HDAC8 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147594126 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS2147594216 CLCN5 Health Risk Pathogenic —
RS2147594243 CLCN5 Health Risk Pathogenic/Likely pathogenic Hypophosphatemic rickets, X-linked recessive
RS2147594453 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147595436 CLCN5 Health Risk Pathogenic —
RS2147595542 HDAC8 Health Risk Likely pathogenic —
RS2147596542 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS2147598858 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2147600340 TBX22 Health Risk Likely pathogenic —
RS2147603053 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147603245 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147604021 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
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